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785722006: Obesity due to leptin receptor gene deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3768151015 Obesity due to leptin receptor gene deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3768152010 Obesity due to leptin receptor gene deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4304326012 A rare genetic non-syndromic obesity disease with characteristics of severe early-onset obesity associated with major hyperphagia and endocrine abnormalities resulting from leptin receptor deficiency. Caused by homozygous mutation in the gene encoding the leptin receptor (LEPR) on chromosome 1p31. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Obesity due to leptin receptor gene deficiency Is a Reproductive system hereditary disorder true Inferred relationship Some
Obesity due to leptin receptor gene deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Obesity due to leptin receptor gene deficiency Occurrence Congenital true Inferred relationship Some 1
Obesity due to leptin receptor gene deficiency Occurrence Congenital true Inferred relationship Some 2
Obesity due to leptin receptor gene deficiency Is a Hereditary disorder of nervous system true Inferred relationship Some
Obesity due to leptin receptor gene deficiency Finding site Structure of pars distalis of pituitary (body structure) true Inferred relationship Some 2
Obesity due to leptin receptor gene deficiency Finding site Gonadal endocrine structure true Inferred relationship Some 1
Obesity due to leptin receptor gene deficiency Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Obesity due to leptin receptor gene deficiency Is a Congenital hypogonadotropic hypogonadism (disorder) true Inferred relationship Some
Obesity due to leptin receptor gene deficiency Is a Severe obesity true Inferred relationship Some
Obesity due to leptin receptor gene deficiency Interprets Body weight measure true Inferred relationship Some 3
Obesity due to leptin receptor gene deficiency Has interpretation Above reference range true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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